Introduction:

Multiple polymorphic variants of the Methylenetetrahydrofolate

reductase gene associated with folate-sensitive birth defects have been described; the rs1801133 polymorphism is considered as the most frequent genetic cause of hyperhomocysteinemia.

Objective:

To relate maternal plasma homocysteine ​​concentrations and the different genotypes of the rs1801133 polymorphism with the risk to have folate-sensitive birth defects in their offspring.

Methods:

An analytical case-control study was conducted in Villa Clara, including 83 mothers with offspring with folate-sensitive birth defects between 2013 and 2018 and an equal number of controls who underwent genotyping of the rs1801131 polymorphism and determination of total homocysteine ​​levels.

Results:

The distribution of homocysteine ​​concentrations between case and control mothers was not homogeneous (10.56 μmol/L and 5.34 μmol/L, p=0.000). In mothers with CC genotype the median was 5.28 μmol/L, a figure that was two and three times higher in those with heterozygous genotypes (CT) and homozygous for the minor allele (TT), 11.26 μmol/L and 18.40 μmol/L, respectively. Risk levels were found in three of the 14 mothers with TT genotype (21,43%) and in one heterozygote mother, while 64,29% (9/14) with homozygous TT genotype presented hyperhomocysteinemia and no case was observed among mothers with CC genotype.

Conclusions:

Hyperhocysteinemia is a risk factor for folate-sensitive congenital defects. Mothers with TT genotype present higher levels of homocysteine, which, together with folic acid deficiency, are factors related to an increased susceptibility to different folate-sensitive birth defects in their offspring.

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